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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1139342301
Gene: ANOS2P
HGNC
NCBI
Linked Data
gnomAD v3:
Y-13787148-AT-A
gnomAD v4:
Y-13787148-AT-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.13787152del , CM000686.2:g.13787152del
GRCh38
NC_000024.9:g.15899032del , CM000686.1:g.15899032del
GRCh37
NC_000024.8:g.14408426del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000652544.1:n.684+32363del
ENST00000430079.5:n.430-3767del
ENST00000460561.1:n.213-3767del
ENST00000472227.5:n.351-3767del
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